Founder effect of the TTTCA repeat insertions in SAMD12causing BAFME1
- Resource Type
- Article
- Authors
- Yeetong, Patra; Chunharas, Chaipat; Pongpanich, Monnat; Bennett, Mark F.; Srichomthong, Chalurmpon; Pasutharnchat, Nath; Suphapeetiporn, Kanya; Bahlo, Melanie; Shotelersuk, Vorasuk
- Source
- European Journal of Human Genetics: EJHG; February 2021, Vol. 29 Issue: 2 p343-348, 6p
- Subject
- Language
- ISSN
- 10184813; 14765438
Benign adult familial myoclonic epilepsy type 1 (BAFME1) in several Japanese and Chinese families has recently been found to be caused by pentanucleotide repeat expansions in SAMD12. We identified a Thai family with six members affected with BAFME. Microsatellite studies suggested a linkage to the BAFME1 region on chromosome 8q24. Subsequently, long-read whole-genome sequencing showed the (TTTTA)446(TTTCA)149in intron 4 of SAMD12in an affected member. Repeat-primed PCR and long-range PCR revealed that the pentanucleotide repeat expansions segregated with the disease status. Our Thai family is the first non-Japanese and non-Chinese family with BAFME1. SNP array showed that the aberrant repeats had the same haplotype as those previously determined in Japanese and Chinese patients suggesting a common ancestry. The variant is estimated to arise ~12,000 years ago.